A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1252764



Internal ID986033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:158590670..158590670hg19UCSC Ensembl
chr6:158510658..158510658hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg1992
hg1892
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3670851
SamplesHuRef
Known GenesGTF2H5
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1252764
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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